DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing

Akers, 2017, Synopsis of guidelines for the clinical management of cerebral cavernous malformations: consensus recommendations based on systematic literature review by the angioma alliance scientific advisory board clinical experts panel, Neurosurgery, 80, 665, 10.1093/neuros/nyx091 Akers, 2009, Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis, Hum. Mol. Genet., 18, 919, 10.1093/hmg/ddn430 Batra, 2009, Cavernous malformations: natural history, diagnosis and treatment, Nat. Rev. Neurol., 5, 659, 10.1038/nrneurol.2009.177 Bergametti, 2005, Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations, Am. J. Hum. Genet., 76, 42, 10.1086/426952 Bird, 1978, Use of restriction enzymes to study eukaryotic DNA methylation: II. The symmetry of methylated sites supports semi-conservative copying of the methylation pattern, J. Mol. Biol., 118, 49, 10.1016/0022-2836(78)90243-7 Bird, 1978, Use of restriction enzymes to study eukaryotic DNA methylation: I. The methylation pattern in ribosomal DNA from Xenopus laevis, J. Mol. Biol., 118, 27, 10.1016/0022-2836(78)90242-5 Boyes, 1991, DNA methylation inhibits transcription indirectly via a methyl-CpG binding protein, Cell, 64, 1123, 10.1016/0092-8674(91)90267-3 Busslinger, 1983, DNA methylation and the regulation of globin gene expression, Cell, 34, 197, 10.1016/0092-8674(83)90150-2 Choquet, 2015, Genetics of cerebral cavernous malformations: current status and future prospects, J. Neurosurg. Sci., 59, 211 Craig, 1998, Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27, Hum. Mol. Genet., 7, 1851, 10.1093/hmg/7.12.1851 Dammann, 2017, Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI, J. Neurosurg., 126, 570, 10.3171/2016.2.JNS152322 Dor, 2018, Principles of DNA methylation and their implications for biology and medicine, Lancet, 392, 777, 10.1016/S0140-6736(18)31268-6 Fischer, 2013, Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis, Trends Mol. Med., 19, 302, 10.1016/j.molmed.2013.02.004 Gardiner-Garden, 1987, CpG islands in vertebrate genomes, J. Mol. Biol., 196, 261, 10.1016/0022-2836(87)90689-9 Guclu, 2005, Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3, Neurosurgery, 57, 1008, 10.1227/01.NEU.0000180811.56157.E1 Gunel, 1995, Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21, Proc. Natl. Acad. Sci. U. S. A., 92, 6620, 10.1073/pnas.92.14.6620 Hayatsu, 1970, The mutagenic action of sodium bisulfite, Biochem. Biophys. Res. Commun., 39, 156, 10.1016/0006-291X(70)90771-0 Herman, 1996, Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands, Proc. Natl. Acad. Sci. U. S. A., 93, 9821, 10.1073/pnas.93.18.9821 Hernandez, 2013, Optimizing methodologies for PCR-based DNA methylation analysis, Biotechniques, 55, 181, 10.2144/000114087 Jennum, 2015, Cost of stroke: a controlled national study evaluating societal effects on patients and their partners, BMC Health Serv. Res., 15, 466, 10.1186/s12913-015-1100-0 Kristensen, 2012, Methylation profiling of normal individuals reveals mosaic promoter methylation of cancer-associated genes, Oncotarget, 3, 450, 10.18632/oncotarget.480 Leaute-Labreze, 2015, A randomized, controlled trial of oral propranolol in infantile hemangioma, N. Engl. J. Med., 372, 735, 10.1056/NEJMoa1404710 Leitao, 2018, Locus-specific DNA methylation analysis by targeted deep bisulfite sequencing, Methods Mol. Biol., 1767, 351, 10.1007/978-1-4939-7774-1_19 Li, 2002, MethPrimer: designing primers for methylation PCRs, Bioinformatics, 18, 1427, 10.1093/bioinformatics/18.11.1427 McDonald, 2014, Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis, Hum. Mol. Genet., 23, 4357, 10.1093/hmg/ddu153 Morrison, 1993, Cerebral cavernous malformation, familial Polster, 2018 Rath, 2017, High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations, Eur. J. Med. Genet., 60, 479, 10.1016/j.ejmg.2017.06.007 Reinhard, 2016, Propranolol stops progressive multiple cerebral cavernoma in an adult patient, J. Neurol. Sci., 367, 15, 10.1016/j.jns.2016.04.053 Riant, 2013, CCM3 mutations are associated with early-onset cerebral hemorrhage and multiple meningiomas, Mol Syndromol, 4, 165, 10.1159/000350042 Schroder, 2014, Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations, Neurosurg. Rev., 37, 161, 10.1007/s10143-013-0478-6 Shaw, 2006, Methylation enrichment pyrosequencing: combining the specificity of MSP with validation by pyrosequencing, Nucleic Acids Res., 34, e78, 10.1093/nar/gkl424 Taslimi, 2016, Natural history of cavernous malformation: systematic review and meta-analysis of 25 studies, Neurology, 86, 1984, 10.1212/WNL.0000000000002701 Tate, 1993, Effects of DNA methylation on DNA-binding proteins and gene expression, Curr. Opin. Genet. Dev., 3, 226, 10.1016/0959-437X(93)90027-M Tyagi, 2018, Healthcare utilization and cost trajectories post-stroke: role of caregiver and stroke factors, BMC Health Serv. Res., 18, 881, 10.1186/s12913-018-3696-3 Wang, 1980, Comparison of bisulfite modification of 5-methyldeoxycytidine and deoxycytidine residues, Nucleic Acids Res., 8, 4777, 10.1093/nar/8.20.4777 Xu, 2018, The economic burden of stroke care in England, Wales and Northern Ireland: using a national stroke register to estimate and report patient-level health economic outcomes in stroke, Eur Stroke J, 3, 82, 10.1177/2396987317746516 You, 2013, Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations, J. Cell Mol. Med., 17, 407, 10.1111/jcmm.12022 You, 2017, EphB4 forward signalling mediates angiogenesis caused by CCM3/PDCD10-ablation, J. Cell Mol. Med., 10.1111/jcmm.13105 Zeschnigk, 1997, A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus, Eur. J. Hum. Genet., 5, 94, 10.1159/000484740 Zeschnigk, 1997, Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method, Hum. Mol. Genet., 6, 387, 10.1093/hmg/6.3.387 Zhu, 2010, Differential angiogenesis function of CCM2 and CCM3 in cerebral cavernous malformations, Neurosurg. Focus, 29, E1, 10.3171/2010.5.FOCUS1090